objective mental retardation (mr) or intellectual disability is one of three chronic and disabling neurological disorders of children and adolescents. its prevalence is estimated 1-3% of the population. mr is defined as significant sub-average intellectual functioning and adaptive behavior that become detectable before the age of 18. mr may come into view before 5 years as delay in at least two...

49,xxxxy is rare chromosomal pattern and these patients have mental retardation, small penis, cryptorchidism and skeletal anomalies. we reported a 10 month-old boy who has hypotonia, microcephaly, hypertelorism, depressed nasal bridge, epicanthic folds and bilateral multiple ear tags, high arched palate, down set ears, micrognathia and congenital heart disease such as patent ductus arteriosus (...

This small book is the first of a series of occasional papers which are to be published under the auspices of the Institute for Research into Mental Retardation, and its author is the chairman of the Institute's Research Committee. In the preface, it is said to be aimed at an intelligent lay audience and it is suggested that 'it will be read with interest and profit by workers in the field of m...

We describe two families affected by a recessively transmitted familial cerebral palsy with onset in infancy. Two sisters in the first family have a severe spastic diplegia. The older sister also has mild mental retardation and hypothyroidism whilst the younger sister is of normal intelligence. Two brothers in the second family have a spastic quadriparesis, fifth finger camptodactyly and normal...

A distinct and previously undescribed syndrome has been observed in six Saudi Arabian patients from two highly inbred families. The parents were normal, indicating an autosomal recessive pattern of inheritance. All the patients have a distinctive facial appearance, hypogonadism, sparse or absent hair, diabetes mellitus, mental retardation, mild deafness, and variable S-T and T wave abnormalitie...

We report on a family with an X linked neurodegenerative disorder consisting of mental retardation, blindness, convulsions, spasticity, and early death. Neuropathological examination showed mild hypomyelination. By linkage analysis, the underlying genetic defect could be assigned to the pericentromeric region of the X chromosome with a maximum lod score of 3.30 at è=0.0 for the DXS1204 locus wi...